Mutagenetix > Incidental Mutation

Incidental Mutation 'R7431:Atp1a4'

576437

Institutional Source

Beutler Lab

Gene Symbol

Atp1a4

Ensembl Gene

ENSMUSG00000007107

Gene Name

ATPase, Na+/K+ transporting, alpha 4 polypeptide

Synonyms

MMRRC Submission

045509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172051080-172085981 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172078474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 255 (F255L)

Ref Sequence

ENSEMBL: ENSMUSP00000106874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111243]

AlphaFold

Q9WV27

Predicted Effect

probably benign
Transcript: ENSMUST00000111243
AA Change: F255L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: F255L

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
Cation_ATPase_N	51	125	1.22e-14	SMART
Pfam:E1-E2_ATPase	144	375	2.6e-59	PFAM
Pfam:Hydrolase	380	738	8.1e-19	PFAM
Pfam:HAD	383	735	1.6e-17	PFAM
Pfam:Cation_ATPase	437	531	9.2e-25	PFAM
Pfam:Cation_ATPase_C	808	1017	1.2e-47	PFAM

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Abcf3	G	T	16: 20,377,539 (GRCm39)	R510L	probably benign	Het
Abcg4	T	A	9: 44,185,997 (GRCm39)	I625F	possibly damaging	Het
Adam22	A	T	5: 8,142,818 (GRCm39)	S806T	probably damaging	Het
Adcy4	T	C	14: 56,010,129 (GRCm39)	I718V	probably benign	Het
Adgb	A	T	10: 10,267,699 (GRCm39)		probably null	Het
Aldoart1	T	A	4: 72,769,678 (GRCm39)	K377*	probably null	Het
Apc2	T	A	10: 80,138,017 (GRCm39)	V100E	possibly damaging	Het
Asxl3	T	G	18: 22,650,010 (GRCm39)	D666E	probably damaging	Het
Atg4c	A	T	4: 99,109,632 (GRCm39)	I200F	possibly damaging	Het
Bod1l	A	C	5: 41,970,463 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,221,237 (GRCm39)	T250S	probably damaging	Het
Ccdc202	A	G	14: 96,119,273 (GRCm39)	H10R	probably benign	Het
Ccng1	G	A	11: 40,644,745 (GRCm39)	R51W	possibly damaging	Het
Chd6	T	C	2: 160,868,248 (GRCm39)	E366G	possibly damaging	Het
Clca4b	A	T	3: 144,616,894 (GRCm39)	S919T	probably benign	Het
Col5a3	T	C	9: 20,682,131 (GRCm39)	*1740W	probably null	Het
Col6a5	A	T	9: 105,805,468 (GRCm39)	I1146K	unknown	Het
Cpxm1	T	C	2: 130,235,966 (GRCm39)	T399A	probably benign	Het
Cpz	T	C	5: 35,668,486 (GRCm39)	T375A	probably benign	Het
Cyp2b13	T	A	7: 25,760,976 (GRCm39)	V11D	probably damaging	Het
Cyp39a1	A	G	17: 43,993,906 (GRCm39)	T189A	probably benign	Het
Desi2	C	T	1: 178,084,007 (GRCm39)	Q52*	probably null	Het
Dhx15	A	G	5: 52,319,953 (GRCm39)	V418A	probably damaging	Het
Dnah3	T	A	7: 119,650,967 (GRCm39)	M978L	probably damaging	Het
Dpagt1	T	A	9: 44,237,384 (GRCm39)	C17*	probably null	Het
Dph5	A	T	3: 115,686,381 (GRCm39)	K52N	possibly damaging	Het
Dpp4	G	T	2: 62,182,582 (GRCm39)	N566K	probably benign	Het
Elavl4	T	C	4: 110,083,830 (GRCm39)	Y94C	probably damaging	Het
Fat2	G	A	11: 55,199,927 (GRCm39)	T1049I	probably damaging	Het
Fat4	T	A	3: 39,063,306 (GRCm39)	Y4421N	possibly damaging	Het
Fcrl2	C	A	3: 87,166,233 (GRCm39)	A181S	probably damaging	Het
Garre1	T	C	7: 33,984,219 (GRCm39)	I135V	possibly damaging	Het
Glg1	G	T	8: 111,887,386 (GRCm39)	N456K	unknown	Het
Gm10228	A	G	16: 88,838,101 (GRCm39)	S68P	unknown	Het
Golga4	G	A	9: 118,388,799 (GRCm39)	E1974K	probably damaging	Het
Heatr9	G	T	11: 83,410,094 (GRCm39)	P49Q	probably damaging	Het
Hmgxb3	A	T	18: 61,280,517 (GRCm39)	V662D	probably damaging	Het
Hs3st4	T	C	7: 123,582,513 (GRCm39)	L37P	probably damaging	Het
Ifi205	A	T	1: 173,855,943 (GRCm39)	M29K	probably benign	Het
Igkv1-35	C	T	6: 69,987,988 (GRCm39)	V103M	probably damaging	Het
Klf13	T	A	7: 63,541,504 (GRCm39)	K208*	probably null	Het
Klhl36	A	G	8: 120,597,121 (GRCm39)	N274S	probably benign	Het
Mosmo	T	A	7: 120,329,873 (GRCm39)	L165I	probably benign	Het
Mtcl1	G	A	17: 66,649,901 (GRCm39)	Q1855*	probably null	Het
Muc16	A	G	9: 18,519,289 (GRCm39)	V208A		Het
Nin	T	G	12: 70,124,997 (GRCm39)	R108S		Het
Odad1	T	G	7: 45,578,670 (GRCm39)	L81R	probably damaging	Het
Or13c7d	T	C	4: 43,770,882 (GRCm39)	N43S	probably damaging	Het
Polr1a	G	A	6: 71,903,643 (GRCm39)	V319I	probably benign	Het
Pramel7	A	G	2: 87,320,282 (GRCm39)	V337A	possibly damaging	Het
Prkar2b	A	T	12: 32,013,150 (GRCm39)		probably null	Het
R3hdm2	T	A	10: 127,294,016 (GRCm39)	M170K	probably benign	Het
Rbm26	A	G	14: 105,354,528 (GRCm39)	I919T	possibly damaging	Het
Rimkla	A	G	4: 119,335,008 (GRCm39)	M125T	probably benign	Het
Sag	T	A	1: 87,749,059 (GRCm39)	F153I	possibly damaging	Het
Sbf2	G	T	7: 109,950,957 (GRCm39)	D1163E	probably damaging	Het
Scgb2b24	T	C	7: 33,438,674 (GRCm39)	I13V	probably benign	Het
Scin	G	A	12: 40,183,921 (GRCm39)	H63Y	probably damaging	Het
Sele	A	G	1: 163,879,189 (GRCm39)	T275A	probably damaging	Het
Slc22a15	T	A	3: 101,805,256 (GRCm39)	T144S	probably benign	Het
Slc8a1	T	A	17: 81,749,092 (GRCm39)	K650I	probably benign	Het
Slc9c1	G	T	16: 45,413,847 (GRCm39)	V992F	probably damaging	Het
Spag16	A	T	1: 69,963,031 (GRCm39)	T393S	unknown	Het
Taf15	G	A	11: 83,395,779 (GRCm39)	D495N	unknown	Het
Tas2r144	T	A	6: 42,192,908 (GRCm39)	I216N	probably damaging	Het
Tbccd1	G	T	16: 22,644,563 (GRCm39)	P271Q	probably benign	Het
Tcf4	C	A	18: 69,480,249 (GRCm39)		probably null	Het
Thap4	A	T	1: 93,678,223 (GRCm39)	S188T	probably benign	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trip11	A	G	12: 101,850,278 (GRCm39)	V1262A	possibly damaging	Het
Tspan2	T	A	3: 102,657,107 (GRCm39)	W35R	probably damaging	Het
Usp39	G	T	6: 72,313,251 (GRCm39)	T313N	possibly damaging	Het
Vmn2r83	T	A	10: 79,327,306 (GRCm39)	L638Q	probably damaging	Het
Vps29	T	C	5: 122,492,541 (GRCm39)	V2A	probably benign	Het
Wrap53	A	G	11: 69,469,313 (GRCm39)	F148L	possibly damaging	Het
Znfx1	T	C	2: 166,897,712 (GRCm39)	Y404C	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,580 (GRCm39)	E118G	probably benign	Het

Other mutations in Atp1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Atp1a4	APN	1	172,067,373 (GRCm39)	missense	probably damaging	1.00
IGL00924:Atp1a4	APN	1	172,074,339 (GRCm39)	missense	probably damaging	1.00
IGL01288:Atp1a4	APN	1	172,085,474 (GRCm39)	missense	possibly damaging	0.77
IGL01665:Atp1a4	APN	1	172,074,291 (GRCm39)	missense	probably benign
IGL02156:Atp1a4	APN	1	172,085,529 (GRCm39)	missense	probably benign
IGL02170:Atp1a4	APN	1	172,062,103 (GRCm39)	missense	possibly damaging	0.94
IGL02228:Atp1a4	APN	1	172,082,452 (GRCm39)	missense	possibly damaging	0.69
IGL02505:Atp1a4	APN	1	172,062,642 (GRCm39)	missense	probably damaging	1.00
IGL02653:Atp1a4	APN	1	172,078,973 (GRCm39)	missense	possibly damaging	0.81
IGL02792:Atp1a4	APN	1	172,054,866 (GRCm39)	critical splice donor site	probably null
IGL02794:Atp1a4	APN	1	172,071,653 (GRCm39)	missense	probably benign	0.13
IGL03102:Atp1a4	APN	1	172,058,718 (GRCm39)	missense	probably damaging	1.00
R0046:Atp1a4	UTSW	1	172,067,664 (GRCm39)	missense	probably benign	0.09
R0046:Atp1a4	UTSW	1	172,067,664 (GRCm39)	missense	probably benign	0.09
R0276:Atp1a4	UTSW	1	172,085,468 (GRCm39)	missense	probably damaging	1.00
R0309:Atp1a4	UTSW	1	172,062,554 (GRCm39)	missense	probably damaging	1.00
R0525:Atp1a4	UTSW	1	172,067,255 (GRCm39)	splice site	probably benign
R0615:Atp1a4	UTSW	1	172,059,627 (GRCm39)	splice site	probably benign
R0730:Atp1a4	UTSW	1	172,067,774 (GRCm39)	splice site	probably benign
R1412:Atp1a4	UTSW	1	172,059,576 (GRCm39)	missense	probably damaging	0.97
R1652:Atp1a4	UTSW	1	172,082,470 (GRCm39)	missense	probably damaging	1.00
R1898:Atp1a4	UTSW	1	172,062,615 (GRCm39)	missense	probably damaging	0.99
R1968:Atp1a4	UTSW	1	172,067,731 (GRCm39)	missense	probably benign
R2291:Atp1a4	UTSW	1	172,072,473 (GRCm39)	missense	probably damaging	1.00
R2897:Atp1a4	UTSW	1	172,074,257 (GRCm39)	missense	probably damaging	1.00
R2908:Atp1a4	UTSW	1	172,062,044 (GRCm39)	missense	probably benign
R3119:Atp1a4	UTSW	1	172,067,393 (GRCm39)	missense	probably damaging	0.99
R3731:Atp1a4	UTSW	1	172,061,528 (GRCm39)	missense	probably damaging	1.00
R4447:Atp1a4	UTSW	1	172,061,998 (GRCm39)	missense	probably damaging	0.99
R4602:Atp1a4	UTSW	1	172,067,332 (GRCm39)	missense	probably damaging	1.00
R4670:Atp1a4	UTSW	1	172,062,567 (GRCm39)	missense	probably benign	0.07
R4674:Atp1a4	UTSW	1	172,085,223 (GRCm39)	missense	possibly damaging	0.81
R4675:Atp1a4	UTSW	1	172,085,223 (GRCm39)	missense	possibly damaging	0.81
R4785:Atp1a4	UTSW	1	172,081,677 (GRCm39)	nonsense	probably null
R4958:Atp1a4	UTSW	1	172,058,718 (GRCm39)	missense	probably damaging	1.00
R5015:Atp1a4	UTSW	1	172,081,649 (GRCm39)	missense	probably damaging	1.00
R5149:Atp1a4	UTSW	1	172,059,572 (GRCm39)	missense	probably damaging	1.00
R5234:Atp1a4	UTSW	1	172,054,737 (GRCm39)	missense	possibly damaging	0.73
R5501:Atp1a4	UTSW	1	172,074,399 (GRCm39)	missense	probably damaging	1.00
R5682:Atp1a4	UTSW	1	172,081,730 (GRCm39)	missense	probably damaging	0.99
R5872:Atp1a4	UTSW	1	172,071,975 (GRCm39)	missense	probably damaging	1.00
R5933:Atp1a4	UTSW	1	172,059,841 (GRCm39)	missense	possibly damaging	0.91
R6722:Atp1a4	UTSW	1	172,085,617 (GRCm39)	unclassified	probably benign
R7087:Atp1a4	UTSW	1	172,074,269 (GRCm39)	missense	probably damaging	1.00
R7122:Atp1a4	UTSW	1	172,059,503 (GRCm39)	missense	possibly damaging	0.47
R7381:Atp1a4	UTSW	1	172,067,682 (GRCm39)	missense	possibly damaging	0.70
R8269:Atp1a4	UTSW	1	172,059,892 (GRCm39)	missense	probably damaging	1.00
R8400:Atp1a4	UTSW	1	172,062,061 (GRCm39)	missense	probably damaging	1.00
R8559:Atp1a4	UTSW	1	172,078,897 (GRCm39)	missense	probably damaging	1.00
R8680:Atp1a4	UTSW	1	172,078,566 (GRCm39)	missense	probably damaging	1.00
R8777:Atp1a4	UTSW	1	172,059,869 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Atp1a4	UTSW	1	172,059,869 (GRCm39)	missense	probably damaging	1.00
R8867:Atp1a4	UTSW	1	172,072,491 (GRCm39)	missense	probably damaging	0.99
R8869:Atp1a4	UTSW	1	172,054,690 (GRCm39)	missense	probably benign
R9260:Atp1a4	UTSW	1	172,074,359 (GRCm39)	missense	probably damaging	1.00
R9300:Atp1a4	UTSW	1	172,067,398 (GRCm39)	missense	probably damaging	1.00
R9545:Atp1a4	UTSW	1	172,078,464 (GRCm39)	missense	probably benign	0.35
Z1176:Atp1a4	UTSW	1	172,059,521 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- ATGATGTCTTTGACCACCCC -3'
(R):5'- ATGACGTGATGGTTCTGACAG -3'

Sequencing Primer
(F):5'- TCCCCACCCCCAGAGGTC -3'
(R):5'- ACAGATAAAGTGGTGCTGCCTTC -3'

Posted On

2019-10-07